Craniofacial Dysostosis with Diaphyseal Hyperplasia

Common Name(s)

Craniofacial Dysostosis with Diaphyseal Hyperplasia

Craniofacial Dysostosis with Diaphyseal Hyperplasia is a rare bone disorder that has been documented in about 30 people from three families. It is inherited in an autosomal dominant manner, meaning only one gene from one parent is needed to cause the condition in a child. The condition is characterized by a small skull and jaw, extremely short stature, and thickening of the arm and leg bones starting in puberty and continuing throughout adulthood. Affected individuals are of normal intelligence. Although there is no cure for the condition, physical therapy may help affected individuals overcome any physical limitations associated with the condition.

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Advocacy and Support Organizations

 

Condition Specific Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Craniofacial Dysostosis with Diaphyseal Hyperplasia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Craniofacial Dysostosis with Diaphyseal Hyperplasia" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Craniofacial Dysostosis with Diaphyseal Hyperplasia" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.